ClinVar Miner

List of variants in gene CREBBP reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15061
NM_004380.3(CREBBP):c.4280+42C>T rs129967 0.15001
NM_004380.3(CREBBP):c.*22T>C rs2230140 0.10023
NM_004380.3(CREBBP):c.1942-165T>C rs130005 0.08207
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08048
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_004380.3(CREBBP):c.1574-295G>A rs3025697 0.07954
NM_004380.3(CREBBP):c.1942-24A>G rs130004 0.05574
NM_004380.3(CREBBP):c.3780-283G>A rs1017007 0.05072
NM_004380.3(CREBBP):c.1216+115T>C rs3025699 0.05062
NM_004380.3(CREBBP):c.2114-150C>T rs3025696 0.04879
NM_004380.3(CREBBP):c.3060+109A>T rs129997 0.04604
NM_004380.3(CREBBP):c.4280+259G>A rs73493517 0.04601
NM_004380.3(CREBBP):c.86-275C>T rs139660488 0.04225
NM_004380.3(CREBBP):c.2158+81G>A rs73501781 0.04167
NM_004380.3(CREBBP):c.2113+81A>G rs130002 0.03927
NM_004380.3(CREBBP):c.4133+93A>G rs130016 0.03246
NM_004380.3(CREBBP):c.2284-294T>C rs129999 0.02824
NM_004380.3(CREBBP):c.3982+104T>C rs129973 0.02472
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_004380.3(CREBBP):c.1573+310C>T rs121648 0.02428
NM_004380.3(CREBBP):c.3369+271G>A rs3025692 0.02381
NM_004380.3(CREBBP):c.3061-153C>A rs3025693 0.02322
NM_004380.3(CREBBP):c.2159-38G>A rs55726566 0.02115
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01459
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01339
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01003
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_004380.3(CREBBP):c.5173-221C>T rs180706865 0.00954
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.00944
NM_004380.3(CREBBP):c.5838A>C (p.Pro1946=) rs1461048336 0.00886
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_004380.3(CREBBP):c.975+65C>T rs130043 0.00762
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_004380.3(CREBBP):c.5173-27C>T rs74423795 0.00492
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00480
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_004380.3(CREBBP):c.4729-59G>A rs185620735 0.00433
NM_004380.3(CREBBP):c.3915-24C>T rs139387295 0.00416
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00261
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00238
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00223
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00200
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00196
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00171
NM_004380.3(CREBBP):c.3609+45C>A rs129996 0.00158
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00120
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00113
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00101
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00101
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00070
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00042
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00040
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00035
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00015
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00014
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00012
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00010
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.*25dup rs201047390
NM_004380.3(CREBBP):c.*28del rs142721165
NM_004380.3(CREBBP):c.1331-32G>T rs130025
NM_004380.3(CREBBP):c.1573+214T>C rs130021
NM_004380.3(CREBBP):c.1574-280C>T rs130019
NM_004380.3(CREBBP):c.1941+116C>A rs8052927
NM_004380.3(CREBBP):c.2158+228ATTT[6] rs145673583
NM_004380.3(CREBBP):c.2158+61C>T rs12051375
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.4133+214C>A rs11076785
NM_004380.3(CREBBP):c.4394+230dup rs369510235
NM_004380.3(CREBBP):c.4728+210G>A rs74005852
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.5173-178C>T rs77313528
NM_004380.3(CREBBP):c.5173-218_5173-202del rs367793587
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.86-280del rs1299749572

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